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BRCA2 BRCA2 DNA repair associated [ Homo sapiens (human) ]

Gene ID: 675, updated on 14-Nov-2024

Summary

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Official Symbol
BRCA2provided by HGNC
Official Full Name
BRCA2 DNA repair associatedprovided by HGNC
Primary source
HGNC:HGNC:1101
See related
Ensembl:ENSG00000139618 MIM:600185; AllianceGenome:HGNC:1101
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAD; FACD; FAD1; GLM3; BRCC2; FANCD; PNCA2; FANCD1; XRCC11; BROVCA2
Summary
Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, May 2020]
Expression
Broad expression in bone marrow (RPKM 2.9), testis (RPKM 2.2) and 17 other tissues See more
Orthologs
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Genomic context

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See BRCA2 in Genome Data Viewer
Location:
13q13.1
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (32315077..32400268)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (31532322..31617510)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (32889214..32974405)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5245 Neighboring gene FRY antisense RNA 1 Neighboring gene FRY microtubule binding protein Neighboring gene Sharpr-MPRA regulatory region 2624 Neighboring gene NANOG hESC enhancer GRCh37_chr13:32716946-32717447 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:32739396-32740595 Neighboring gene Sharpr-MPRA regulatory region 7321 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:32784277-32785476 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:32827763-32828962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5246 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5247 Neighboring gene BRCA2 promoter/silencer region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7554 Neighboring gene zygote arrest 1 like Neighboring gene Sharpr-MPRA regulatory region 1962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7556 Neighboring gene interferon induced protein with tetratricopeptide repeats 1 pseudogene 1 Neighboring gene small nucleolar RNA SNORA16B/SNORA16A family Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7558 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7559 Neighboring gene NEDD4 binding protein 2 like 1 Neighboring gene NEDD4 binding protein 2 like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7560 Neighboring gene ATPase phospholipid transporting 8A2 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. High grade prostatic intraepithelial neoplasia does not display loss of heterozygosity at the mutation locus in BRCA2 mutation carriers with aggressive prostate cancer. Willems-Jones A, et al. BJU Int, 2012 Dec. PMID 23035815
  2. BRCA2 functions: from DNA repair to replication fork stabilization. Fradet-Turcotte A, et al. Endocr Relat Cancer, 2016 Oct. PMID 27530658
  3. Pancreatic ductal adenocarcinoma in BRCA2 mutation carriers. de Mestier L, et al. Endocr Relat Cancer, 2016 Oct. PMID 27511924
  4. Secondary mutations in BRCA2 associated with clinical resistance to a PARP inhibitor. Barber LJ, et al. J Pathol, 2013 Feb. PMID 23165508
  5. Germline BRCA2 Truncating Mutation in Familial Esophageal Squamous Cell Carcinoma: A Case Controlled Study in China. Liang Z, et al. Med Sci Monit, 2020 Jun 24. PMID 32579544, Free PMC Article

See all (1000) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).
    Title: Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).
  2. Mutation spectra of the BRCA1/2 genes in human breast and ovarian cancer and germline.
    Title: Mutation spectra of the BRCA1/2 genes in human breast and ovarian cancer and germline.
  3. Incidence of endometrial cancer in BRCA mutation carriers.
    Title: Incidence of endometrial cancer in BRCA mutation carriers.
  4. Hypermethylation of the BRCA2 gene promoter and its co-hypermethylation with the BRCA1 gene promoter in patients with breast cancer.
    Title: Hypermethylation of the BRCA2 gene promoter and its co-hypermethylation with the BRCA1 gene promoter in patients with breast cancer.
  5. Distinct mobility patterns of BRCA2 molecules at DNA damage sites.
    Title: Distinct mobility patterns of BRCA2 molecules at DNA damage sites.
  6. DSS1 restrains BRCA2's engagement with dsDNA for homologous recombination, replication fork protection, and R-loop homeostasis.
    Title: DSS1 restrains BRCA2's engagement with dsDNA for homologous recombination, replication fork protection, and R-loop homeostasis.
  7. Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported.
    Title: Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported.
  8. [Prostate cancer with BRCA2 pathogenic mutation: a clinicopathological analysis].
    Title: [Prostate cancer with BRCA2 pathogenic mutation: a clinicopathological analysis].
  9. The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.
    Title: The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.
  10. CRIP1 cooperates with BRCA2 to drive the nuclear enrichment of RAD51 and to facilitate homologous repair upon DNA damage induced by chemotherapy.
    Title: CRIP1 cooperates with BRCA2 to drive the nuclear enrichment of RAD51 and to facilitate homologous repair upon DNA damage induced by chemotherapy.
Submit: New GeneRIF Correction See all GeneRIFs (1634)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in BRCA2 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Breast-ovarian cancer, familial, susceptibility to, 2
MedGen: C2675520 OMIM: 612555 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
not available
Familial cancer of breast
MedGen: C0346153 OMIM: 114480 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
not available
Fanconi anemia complementation group D1
MedGen: C1838457 OMIM: 605724 GeneReviews: Wilms Tumor Predisposition, Fanconi Anemia
not available
Glioma susceptibility 3
MedGen: C2751641 OMIM: 613029 GeneReviews: Not available
not available
Hereditary breast ovarian cancer syndrome
MedGen: C0677776 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
not available
Malignant tumor of prostate
MedGen: C0376358 GeneReviews: Not available
not available
Medulloblastoma
MedGen: C0025149 OMIM: 155255 GeneReviews: Not available
not available
Pancreatic cancer, susceptibility to, 2
MedGen: C3150546 OMIM: 613347 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
not available
Wilms tumor 1
MedGen: CN033288 OMIM: 194070 GeneReviews: Wilms Tumor Predisposition, PAX6-Related Aniridia, WT1 Disorder
not available

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-07-14)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2021-07-14)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
EBI GWAS Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
EBI GWAS Catalog
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables gamma-tubulin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables histone H3 acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables histone H4 acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
NOT enables histone acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protease binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables single-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IEA
Inferred from Electronic Annotation
more info
  
involved_in brain development IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to ionizing radiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular senescence IEA
Inferred from Electronic Annotation
more info
  
involved_in centrosome duplication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in double-strand break repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in establishment of protein localization to telomere IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in female gonad development IEA
Inferred from Electronic Annotation
more info
  
involved_in hematopoietic stem cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in inner cell mass cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IEA
Inferred from Electronic Annotation
more info
  
involved_in male meiosis I IEA
Inferred from Electronic Annotation
more info
  
involved_in mitotic recombination-dependent replication fork processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of mammary gland epithelial cell proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nucleotide-excision repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in oocyte maturation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of DNA damage checkpoint NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of cytokinesis IEA
Inferred from Electronic Annotation
more info
  
involved_in response to UV-C IEA
Inferred from Electronic Annotation
more info
  
involved_in response to X-ray IEA
Inferred from Electronic Annotation
more info
  
involved_in response to gamma radiation IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in telomere maintenance via recombination IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of BRCA2-MAGE-D1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of DNA repair complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in chromosome, telomeric region IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in lateral element IDA
Inferred from Direct Assay
more info
 PubMed 
part_of nuclear ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in secretory granule IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
breast cancer type 2 susceptibility protein
Names
BRCA1/BRCA2-containing complex, subunit 2
BRCA2 DNA repair associated protein
DNA repair-associated BRCA2
Fanconi anemia group D1 protein
breast and ovarian cancer susceptibility gene, early onset
breast and ovarian cancer susceptibility protein 2
breast cancer 2 tumor suppressor
breast cancer 2, early onset
mutant BRCA2
mutant DNA repair-associated protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012772.3 RefSeqGene

    Range
    5001..89193
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_293

mRNA and Protein(s)

  1. NM_000059.4 → NP_000050.3  breast cancer type 2 susceptibility protein isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL137247, AL445212
    Consensus CDS
    CCDS9344.1
    UniProtKB/Swiss-Prot
    O00183, O15008, P51587, Q13879, Q5TBJ7
    UniProtKB/TrEMBL
    A0A386IN23, A0A7P0T9D7
    Related
    ENSP00000369497.3, ENST00000380152.8
    Conserved Domains (5) summary
    cd04494
    Location:2804 → 3054
    BRCA2DBD_OB2; A subfamily of OB folds corresponding to the second OB fold (OB2) of the 800-amino acid C-terminal ssDNA binding domain (DBD) of BRCA2 (breast cancer susceptibility gene 2) protein, called BRCA2DBD. BRCA2 participates in homologous recombination-mediated ...
    pfam00634
    Location:1213 → 1243
    BRCA2; BRCA2 repeat
    pfam09103
    Location:2670 → 2793
    BRCA-2_OB1; BRCA2, oligonucleotide/oligosaccharide-binding, domain 1
    pfam09104
    Location:3054 → 3186
    BRCA-2_OB3; BRCA2, oligonucleotide/oligosaccharide-binding, domain 3
    pfam09169
    Location:2481 → 2667
    BRCA-2_helical; BRCA2, helical

  2. NM_001406719.1 → NP_001393648.1  breast cancer type 2 susceptibility protein isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL137247, AL445212

  3. NM_001406720.1 → NP_001393649.1  breast cancer type 2 susceptibility protein isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL137247, AL445212
    UniProtKB/TrEMBL
    A0A8V8TPZ2
    Related
    ENSP00000514856.2, ENST00000700202.2

  4. NM_001406721.1 → NP_001393650.1  breast cancer type 2 susceptibility protein isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL137247, AL445212

  5. NM_001406722.1 → NP_001393651.1  breast cancer type 2 susceptibility protein isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL137247, AL445212

  6. NM_001432077.1 → NP_001419006.1  breast cancer type 2 susceptibility protein isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL137247, AL445212
    UniProtKB/Swiss-Prot
    O00183, O15008, P51587, Q13879, Q5TBJ7
    UniProtKB/TrEMBL
    A0A7P0T9D7
    Related
    ENSP00000439902.1, ENST00000544455.6

RNA

  1. NR_176251.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL137247, AL445212
    Related
    ENST00000528762.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    32315077..32400268
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    31532322..31617510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P51587.4 GenPept UniProtKB/Swiss-Prot:P51587

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Medical
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Tools
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